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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy
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Accession:DOID:9006920 term browser browse the term
Synonyms:exact_synonym: PMSE;   PMSE SYNDROME
 primary_id: MESH:C567020;   RDO:0015209
 alt_id: OMIM:611087
For additional species annotation, visit the Alliance of Genome Resources.


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Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STRADA STE20 related adaptor alpha IAGP ClinVar Annotator: match by term: Polyhydramnios, megalencephaly, and symptomatic epilepsy ClinVar
OMIM
PMID:17522105, PMID:20424326, PMID:25741868, PMID:27170158, PMID:28492532 NCBI chr17:63,702,832...63,741,986
Ensembl chr17:63,682,336...63,741,986
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18837
    disease of anatomical entity 17323
      nervous system disease 13417
        central nervous system disease 11457
          brain disease 10643
            epilepsy 1650
              Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 1
Path 2
Term Annotations click to browse term
  disease 18837
    Developmental Diseases 12132
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9981
        genetic disease 9460
          monogenic disease 6898
            autosomal genetic disease 5658
              autosomal dominant disease 3663
                complex cortical dysplasia with other brain malformations 817
                  Malformations of Cortical Development, Group I 652
                    Macrocephaly 86
                      Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.